Article
Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease.
Circulation. Genomic and precision medicine - 1 Apr 2025
Helm Benjamin M, Wetherill Leah, Landis Benjamin J, Ware Stephanie M
Abstract excerpt
BACKGROUND: Genetic disorders are prevalent in patients with congenital heart disease (CHD), but genetic evaluations are underutilized and nonstandardized. We sought to quantify a dysmorphology score and develop phenotype-based prediction models for genetic diagnoses in CHD. METHODS: We used a test-negative case-control study of inpatient infants (<1 year) with CHD undergoing standardized genetic evaluations. We...
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